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HelpTest Code LAB530 17-Hydroxypregnenolone, Serum
Reporting Name
17-Hydroxypregnenolone, SUseful For
As an ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out
Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency
As part of a battery of tests to evaluate women with hirsutism or infertility; both can result from adult-onset CAH
Testing Algorithm
For information see Steroid Pathways.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumSpecimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 1 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Frozen (preferred) | 28 days | |
| Refrigerated | 28 days |
Special Instructions
Reference Values
CHILDREN/ADOLESCENTS*
Males
Premature (26-28 weeks): 1,219-9,799 ng/dL
Premature (29-36 weeks): 346-8,911 ng/dL
Full term (1-5 months): 229-3,104 ng/dL
6 months-364 days: 221-1,981 ng/dL
1-2 years: 35-712 ng/dL
3-6 years: <277 ng/dL
7-9 years: <188 ng/dL
10-12 years: <393 ng/dL
13-15 years: 35-465 ng/dL
16-17 years: 32-478 ng/dL
TANNER STAGES
Stage I: <209 ng/dL
Stage II: <356 ng/dL
Stage III: <451 ng/dL
Stage IV-V: 35-478 ng/dL
Females
Premature (26-28 weeks): 1,219-9,799 ng/dL
Premature (29-36 weeks): 346-8,911 ng/dL
Full term (1-5 months): 229-3,104 ng/dL
6 months-364 days: 221-1,981 ng/dL
1-2 years: 35-712 ng/dL
3-6 years: <277 ng/dL
7-9 years: <213 ng/dL
10-12 years: <399 ng/dL
13-15 years: <408 ng/dL
16-17 years: <424 ng/dL
TANNER STAGES
Stage I: <236 ng/dL
Stage II: <368 ng/dL
Stage III: <431 ng/dL
Stage IV-V: <413 ng/dL
*Kushnir MM, Rockwood AL, Roberts WL, et al. Development and performance evaluation of a tandem mass spectrometry assay for 4 adrenal steroids. Clin Chem. 2006;52(8):1559-1567
ADULTS
Males
≥18 years: 55-455 ng/dL
Females
≥18 years: 31-455 ng/dL
To convert to nmol/L, multiply the value in ng/dL by 0.03159757.
Day(s) Performed
Monday, Wednesday, Friday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
84143
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| 17OHP | 17-Hydroxypregnenolone, S | 6765-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 81151 | 17-Hydroxypregnenolone, S | 6765-2 |
Clinical Information
Congenital adrenal hyperplasia (CAH) is caused by inherited defects in steroid biosynthesis. Deficiencies in several enzymes can cause CAH, including 21-hydroxylase (CYP21A2 variants; 90% of cases), 11-hydroxylase (CYP11A1 variants; 5%-8%), 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) (HSD3B2 variants; <5%), and 17-alpha-hydroxylase (CYP17A1 variants; 125 cases reported to date). The resulting hormone imbalances (reduced glucocorticoids and mineralocorticoids; elevated steroid intermediates and androgens) can lead to life-threatening, salt-wasting crises in the newborn period and incorrect gender assignment of virilized females.
The adrenal glands, ovaries, testes, and placenta produce steroid intermediates, which are hydroxylated at the position 21 (by 21-hydroxylase) and position 11 (by 11-hydroxylase) to produce cortisol. Deficiency of either 21-hydroxylase or 11-hydroxylase results in decreased cortisol synthesis and loss of feedback inhibition of adrenocorticotropic hormone (ACTH) secretion. The consequent increased pituitary release of ACTH drives increased production of steroid intermediates.
The steroid intermediates are oxidized at position 3 by 3-beta-HSD. The 3-beta-HSD enzyme allows formation of 17-hydroxyprogesterone (17-OHPG) from 17-hydroxypregnenolone and progesterone from pregnenolone. When 3-beta-HSD is deficient, cortisol is decreased, 17-hydroxypregnenolone and pregnenolone levels may increase, and 17-OHPG and progesterone levels are low. Dehydroepiandrosterone is also converted to androstenedione by 3-beta-HSD and may be elevated in patients affected with 3-beta-HSD deficiency.
The best screening test for CAH, most often caused by either 21- or 11-hydroxylase deficiency, is the analysis of 17-OHPG, along with cortisol and androstenedione. CAH21 / Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum allows the simultaneous determination of these 3 analytes. Alternatively, these tests may be ordered individually: OHPG / 17-Hydroxyprogesterone, Serum; CINP / Cortisol, Mass Spectrometry, Serum; and ANST / Androstenedione, Serum.
If both 21- and 11-hydroxylase deficiency have been ruled out, analysis of 17-hydroxypregnenolone and pregnenolone may be used to confirm the diagnosis of 3-beta-HSD or 17-alpha-hydroxylase deficiency.
For more information see Steroid Pathways.
Interpretation
The diagnosis and differential diagnosis of congenital adrenal hyperplasia (CAH) always require the measurement of several steroids. Patients with CAH due to steroid 21-hydroxylase gene (CYP21A2) variants usually have very high levels of androstenedione, often 5-fold to 10-fold elevations. 17-Hydroxyprogesterone (17-OHPG) levels are usually even higher, while cortisol levels are low or undetectable. All 3 analytes should be tested.
For the HSD3B2 variant, cortisol, 17-OHPG, and progesterone levels will be decreased; 17-hydroxypregnenolone, pregnenolone, and dehydroepiandrosterone (DHEA) levels will be increased.
In the much less common CYP11A1 variant, androstenedione levels are elevated to a similar extent as in CYP21A2 variant, and cortisol is also low, but OHPG is only mildly, if at all, elevated.
In the very rare 17-alpha-hydroxylase deficiency, androstenedione, all other androgen-precursors (17-alpha-hydroxypregnenolone, OHPG, dehydroepiandrosterone sulfate), androgens (testosterone, estrone, estradiol), and cortisol are low, while production of mineral corticoid and its precursors (particularly pregnenolone, 11-dexycorticosterone, corticosterone, and 18-hydroxycorticosterone) are increased.
For more information see Steroid Pathways.
Cautions
At birth, the hypothalamic-pituitary-adrenal axis and the hypothalamic-pituitary gonadal axis are activated, and adrenal and sex steroid levels are high. In preterm infants, the elevations can be even more pronounced due to illness and stress. As a result, preterm infants may occasionally have 17-hydroxypregnenolone levels up to 9799 ng/dL. Term infants (0-28 days) will have levels below 3104 ng/dL. These then decrease over the following 2 years to prepubertal levels (<277 ng/dL).
Clinical Reference
1. Wudy SA, Hartmann M, Svoboda M. Determination of 17-hydroxyprogesterone in plasma by stable isotope dilution/benchtop liquid chromatography-tandem mass spectrometry. Horm Res. 2000;53(2):68-71
2. Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001;30(1):15-30
3. Bachega TA, Billerbeck AE, Marcondes JA, et al. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol. 2000;52(5):601-607
4. Kao PC, Machacek DA, Magera MJ, at al. Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. Ann Clin Lab Sci. 2001;31(2):199-204
5. Sciarra F, Tosti-Croce C, Toscano V. Androgen-secreting adrenal tumors. Minerva Endocrinol. 1995;20(1):63-68
6. Collett-Solberg PF. Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, part I. Clin Pediatr (Phila). 2001:40(1):1-16
7. Chormanski D, Muzio MR. C 17 hydroxylase deficiency. In: StatPearls [Internet]. StatPearls Publishing; 2021. Updated January 3, 2023. Accessed May 29, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK546644/
Method Description
Deuterium-labeled internal standards (pregnenolone-d4 and 17-hydroxypregnenolone-d3) are added to each sample. 17-hydroxypregnenolone and the internal standards are extracted from the sample using solid phase extraction. The extracts are washed, dried under nitrogen, derivatized using hydroxylamine, and analyzed by liquid chromatography tandem mass spectrometry. The mass spectrometer has an electrospray interface and is operated in the multiple-reaction monitoring positive mode. A 7-point standard curve is extracted and derivatized with each batch of samples.(Unpublished Mayo method)
Report Available
3 to 7 daysSpecimen Retention Time
14 daysReject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
NY State Approved
YesMethod Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)